MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 8

General Information (adopted from Orphanet):

Synonyms, Signs: MDDGA8
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GTDC2-RELATED
Number of Symptoms 14
OrphanetNr:
OMIM Id: 614830
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000568) Microphthalmia 183 / 7739
2
(HPO:0007973) Retinal dysplasia 27 / 7739
3
(HPO:0001263) Global developmental delay 853 / 7739
4
(HPO:0001252) Muscular hypotonia 990 / 7739
5
(HPO:0010547) Muscle flaccidity 466 / 7739
6
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
7
(HPO:0001324) Muscle weakness 859 / 7739
8
(HPO:0003560) Muscular dystrophy 88 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Macrophthalmia 2 / 7739
11
(HPO:0000238) Hydrocephalus 278 / 7739
12
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
13
(HPO:0002119) Ventriculomegaly 253 / 7739
14
(HPO:0007260) Type II lissencephaly 13 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. The phenotype ...
Clinical Description OMIM Manzini et al. (2012) reported 3 unrelated families with classic features of Walker-Warburg syndrome, including cobblestone lissencephaly, enlarged ventricles, cerebellar hypoplasia, eye abnormalities, and hypotonia. The patients in 2 families died within the first months of life. In ...
Molecular genetics OMIM In affected members of 3 unrelated consanguineous families with Walker-Warburg syndrome, Manzini et al. (2012) identified 3 different homozygous mutations in the GTDC2 gene (614828.0001-614828.0003). The first 2 mutations were identified by homozygosity mapping combined with whole-exome sequencing ...